ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.682A>T (p.Met228Leu)

dbSNP: rs376920653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990439 SCV002256876 uncertain significance Inflammatory bowel disease 25 2023-08-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IL10RB protein function. This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 228 of the IL10RB protein (p.Met228Leu). This variant is not present in population databases (gnomAD no frequency).

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